Evidence map›Paper›PMID 42621862›Full record

ArticleHuman mutation2026

Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.

Sung-Ryung Choi, Min Jung Kim, Ja-Lok Ku, Seung-Yong Jeong, Murim Choi, Ji Won Park

Abstract read
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Sung-Ryung ChoiDepartment of Translational Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea, snu.ac.kr.ORCID https://orcid.org/0009-0008-0591-8001
Min Jung KimDepartment of Surgery, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea, snuh.org.ORCID https://orcid.org/0000-0002-3105-9633
Ja-Lok KuCancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea, snu.ac.kr.ORCID https://orcid.org/0000-0002-7090-537X
Seung-Yong JeongDepartment of Surgery, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea, snuh.org.ORCID https://orcid.org/0000-0003-2726-4850
Murim ChoiDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea, snu.ac.kr.ORCID https://orcid.org/0000-0002-9195-1455
Ji Won ParkDepartment of Surgery, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea, snuh.org.ORCID https://orcid.org/0000-0003-0046-8175

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal cancer predisposition syndrome most commonly caused by pathogenic variants in the

Indexed as

Adenomatous Polyposis ColiAdenomatous Polyposis Coli ProteinMutationWhole Genome SequencingAdultExome SequencingExonsFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedPedigreeAdenomatous Polyposis Coli ProteinAPC protein, humanaberrant splicingAPCexon skippingfamilial adenomatous polyposispseudoexon activationwhole genome sequencing

Identifiers

PMID42621862
PMCPMC13487699

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.